Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in Gene.

Netherton syndrome (NS) is a rare autosomal recessive disorder caused by mutations, resulting in a deficiency in its processed protein LEKTI. It is clinically characterized by the triad of congenital ichthyosis, atopic diathesis, and hair shaft abnormalities. The (NM_006846.

Circumscribed Morphea of the Scalp: An Entity to Be Considered in the Differential Diagnosis of Cicatricial Alopecia.

Introduction: Morphea, also known as localized scleroderma, could affect the head and neck region, mainly manifesting in a linear pattern. Localized scleroderma of the scalp presenting as a circumscribed alopecic patch has been described as an unusual clinical entity. We present a new case of circumscribed morphea of the scalp.

Disseminated superficial actinic porokeratosis following hydroxyurea treatment: A case report.

Porokeratosis encompass a group of acquired and familial, preneoplastic, keratinization disorders, clinically characterized by atrophic macules or patches with a peripheral keratotic rim, the cornoid lamella. Genetic background is recognized as crucial in its pathophysiology, while immunosuppression and ultraviolet radiation represent triggering factors. We report the case of a woman who developed disseminate superficial actinic porokeratosis following the intake of hydroxyurea for a polycythaemia vera.

Primary syphilis of the finger: report of four cases.

Although primary syphilis generally involves the genitalia, literature reports that 12% of chancres are extragenital, with the anus and oral cavity as the most frequent locations. We present hereby a case series of four chancres of the finger observed at the sexually transmitted infection centre of Milan between 2010 and 2021.

Chloride-Assisted Peptide Macrocyclization.

The role of the Cl anion as a templating agent for the synthesis of cyclopeptides was assessed through the preparation of three new homocyclolysines and other six cyclic peptides by head-to-tail lactamization. Isolated yields of products obtained by chloride-templating approach were considerably higher than those gained by a cation-promoted procedure, whereby, in some cases, only the anion-assisted synthesis yielded the desired cyclopeptides.